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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2782138294
Gene: CASC8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127473774_127473783dup , CM000670.2:g.127473774_127473783dup
GRCh38
NC_000008.10:g.128486019_128486028dup , CM000670.1:g.128486019_128486028dup
GRCh37
NC_000008.9:g.128555201_128555210dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_024393.1:n.1041+5311_1041+5320dup
NR_117100.1:n.1041+5311_1041+5320dup
Search 100 bp 5'
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